伴有CTNNB1基因c.98C>G（p.S33C）点突变的原发性卵巢实性假乳头状肿瘤
Primary Ovarian Solid Pseudopapillary Neoplasm With CTNNB1 c.98C>G (p.S33C) Point Mutation.
作者信息
Singh Kamaljeet, Patel Nimesh, Patil Pallavi, Paquette Cherie, Mathews Cara A, Lawrence W Dwayne
机构信息
Department of Pathology and Laboratory Medicine, Alpert Medical School of Brown University, Women & Infants Hospital of Rhode Island (K.S., C.P., W.D.L.) Department of Pathology and Laboratory Medicine, Alpert Medical School of Brown University, Rhode Island Hospital (N.P., P.P.) Program in Women's Oncology, Women & Infants Hospital (C.A.M.), Providence, Rhode Island.
出版信息
Int J Gynecol Pathol. 2018 Mar;37(2):110-116. doi: 10.1097/PGP.0000000000000396.
Ovary is one of the extrapancreatic sites of origin of solid pseudopapillary neoplasm (SPN). Only 9 cases of primary ovarian SPN, 1 with CTNNB1 mutation similar to pancreatic SPN, have been reported in the English literature. We describe the second case of ovarian SPN with confirmed CTNNB1 mutation. A 49-year-old postmenopausal woman presented with a 4.5 cm right ovarian mass. Ovarian mass showed histologic and immunohistochemical features of pancreatic SPN. The ovarian surface was intact and uninvolved. Ki-67 index was low (1%-5%). DNA sequencing of CTNNB1 exon 3 revealed c.98C>G (p.S33C), a well-characterized activating mutation. Our case adds to the growing body of evidence that primary ovarian SPN are phenotypically and genotypically similar to pancreatic SPN.
卵巢是实性假乳头状肿瘤（SPN）胰腺外起源部位之一。英文文献中仅报道过9例原发性卵巢SPN，其中1例具有与胰腺SPN相似的CTNNB1突变。我们描述了第二例经证实存在CTNNB1突变的卵巢SPN。一名49岁绝经后女性，右侧卵巢有一个4.5 cm的肿块。卵巢肿块表现出胰腺SPN的组织学和免疫组化特征。卵巢表面完整且未受累。Ki-67指数较低（1%-5%）。CTNNB1外显子3的DNA测序显示c.98C>G（p.S33C），这是一种特征明确的激活突变。我们的病例进一步证明，原发性卵巢SPN在表型和基因型上与胰腺SPN相似。
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